{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T00:20:12Z","timestamp":1758846012175,"version":"3.44.0"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,6,30]],"date-time":"2025-06-30T00:00:00Z","timestamp":1751241600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100020908","name":"Pfizer France","doi-asserted-by":"publisher","award":["16\/18378"],"award-info":[{"award-number":["16\/18378"]}],"id":[{"id":"10.13039\/100020908","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hereditary amyloid transthyretin (ATTRv) is caused by <jats:italic>TTR<\/jats:italic> gene mutations, which lead to multisystem amyloid deposits. A misdiagnosis is common, which delays treatment. We assessed the prevalence of <jats:italic>TTR<\/jats:italic> mutations in patients with neuropathy of unknown cause at the first stage of assessment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This prospective study, conducted in western France, assessed patients with neuropathy aged 18\u201390\u2009years. We excluded individuals with known causes or prior screening of <jats:italic>TTR<\/jats:italic> mutations. Genetic analyses of <jats:italic>TTR<\/jats:italic> mutations were done using Sanger sequencing. Clinical, biochemical, and electrophysiological data were collected. Statistical analyses estimated the prevalence of <jats:italic>TTR<\/jats:italic> amyloidosis in this cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 400 patients, four (1%) were identified as having a heterozygous <jats:italic>TTR<\/jats:italic> mutation. The mean age of these patients with a <jats:italic>TTR<\/jats:italic> mutation was 75\u2009years, with a mean duration of neuropathy of 2.5\u2009years. The initial symptoms varied, with one patient experiencing mixed sensory impairment, another with motor and sensory issues, one with purely motor symptoms, and one with small\u2010fiber sensory impairment. Notably, none had cardiological or renal impairments, and all exhibited sensorimotor neuropathy upon electromyography. Three patients had an axonal profile, and one showed demyelinating neuropathy, which highlighted the diagnostic challenges.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>We identified a 1% prevalence of <jats:italic>TTR<\/jats:italic> mutations, which is lower than that reported previously, and highlights the influence of selective inclusion criteria on such estimates. Our data emphasize the need for early detection because patients frequently lack red\u2010flag symptoms. Ultimately, early screening allows for prompt management and minimizes long\u2010term complications in individuals with unexplained neuropathy.<\/jats:p><jats:p><jats:bold>Trial Registration:<\/jats:bold> <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/clinicaltrials.gov\/\">ClinicalTrials.Gov<\/jats:ext-link> Identifier: NCT03190577.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jns.70043","type":"journal-article","created":{"date-parts":[[2025,6,30]],"date-time":"2025-06-30T06:10:00Z","timestamp":1751263800000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Etiologic Diagnosis of Neuropathies Based on First\u2010Line Screening of <i>TTR<\/i> Gene Mutations"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7589-1421","authenticated-orcid":false,"given":"Armelle","family":"Magot","sequence":"first","affiliation":[{"name":"Centre de 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